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SASH1 (SAM and SH3 domain containing 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23328
Gene nameGene Name - the full gene name approved by the HGNC.
SAM and SH3 domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SASH1
SynonymsGene synonyms aliases
CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.3-q25.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppresso
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587781245 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1237876014 A>C,G Pathogenic Missense variant, coding sequence variant
rs1562489143 T>G Pathogenic Missense variant, coding sequence variant
rs1562489156 G>A Pathogenic Missense variant, coding sequence variant
rs1562489165 ->AAGT Pathogenic Coding sequence variant, frameshift variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017001 hsa-miR-335-5p Microarray 18185580
MIRT030781 hsa-miR-21-5p Microarray 18591254
MIRT437650 hsa-miR-181a-5p Microarray, qRT-PCR 22815788
MIRT030781 hsa-miR-21-5p Microarray, qRT-PCR 22815788
MIRT098786 hsa-miR-93-5p Microarray, qRT-PCR 22815788
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 23776175
GO:0001965 Function G-protein alpha-subunit binding IDA 23333244
GO:0005515 Function Protein binding IPI 23333244
GO:0005737 Component Cytoplasm IDA 23333244
GO:0008022 Function Protein C-terminus binding IDA 23776175
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O94885
Protein name SAM and SH3 domain-containing protein 1 (Proline-glutamate repeat-containing protein)
Protein function Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubM
PDB 2DL0 , 2EBP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12485 SLY
401 555
Lymphocyte signaling adaptor protein
Family
PF07653 SH3_2
558 613
Variant SH3 domain
Domain
PF00536 SAM_1
633 695
SAM domain (Sterile alpha motif)
Domain
PF07647 SAM_2
1174 1239
SAM domain (Sterile alpha motif)
Domain
Sequence
MEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNID
DLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSA
VSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVAS
EITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSS
NCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVL
DERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESR
GLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHV
GSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSVSEQDSGL
DGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVK
SEDGDDEEPPYRGPF
CGRARVHTDFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNN
KVGTFKFIYVDVL
SEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPTFLFNGYE
DLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQ
EYDSNSDQSGSQEKLLVDSQGLSGC
SPRDSGCYESSENLENGKTRKASLLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQ
GQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDTWPRSHSL
DDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRF
SEPQKLTTKKLEGSIAASGRGLSPPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGT
HHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPSPDAPCLP
VKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPA
LTRKVSCARGVDLETLTENKLHAEGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERD
VAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPMYAGTLST
AGFSTLSQVPSLSHTCLQEAGITEERHIRKLLSAARLFK
LPPGPEAM
Sequence length 1247
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259
Dyschromatosis universalis hereditaria Dyschromatosis Universalis Hereditaria 1 rs397514756, rs397514757, rs397514758, rs796065353, rs1562490566, rs1562489224, rs1562489156, rs1562489240, rs1562489165, rs1562489143 27885802, 26203640, 27659786, 23333244, 27840890, 29956681
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 27903959
Palmoplantar keratoderma Keratoderma, Palmoplantar rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia
Diabetic nephropathy Diabetic Nephropathy 21150874
Dyschromatosis Dyschromatosis
Lentiginosis profusa Lentiginosis Profusa 26203640

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